Canonical Allele Identifier: CA370468457
Gene: LPL HGNC NCBI

Linked Data

dbSNP Id: rs1407114060
gnomAD v2: 8-19811727-C-G
gnomAD v4: 8-19954216-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19954216C>G , CM000670.2:g.19954216C>G GRCh38
NC_000008.10:g.19811727C>G , CM000670.1:g.19811727C>G GRCh37
NC_000008.9:g.19856007C>G NCBI36
NG_008855.1:g.20146C>G
NG_008855.2:g.57500C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.638C>G MANE Select ENSP00000497642.1:p.Thr213Ser
ENST00000311322.8:c.638C>G ENSP00000309757.6:p.Thr213Ser
NM_000237.2:c.638C>G NP_000228.1:p.Thr213Ser
NM_000237.3:c.638C>G MANE Select NP_000228.1:p.Thr213Ser